SEARCH

SEARCH BY CITATION

References

  • 1
    Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, Ladisch S, McClain K, Webb D, Winiarski J, Janka G (2007) HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 48:124131.
  • 2
    Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 286:19571959.
  • 3
    Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, Danesino C, Arico M (2001) Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet 38:643646.
  • 4
    Trambas C, Gallo F, Pende D, Marcenaro S, Moretta L, De Fusco C, Santoro A, Notarangelo L, Arico M, Griffiths GM (2005) A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin. Blood 106:932937.
  • 5
    Cetica V, Pende D, Griffiths GM, Arico M (2010) Molecular basis of familial hemophagocytic lymphohistiocytosis. Haematologica 95:538541.
  • 6
    Arico M, Danesino C, Pende D, Moretta L (2001) Pathogenesis of haemophagocytic lymphohistiocytosis. Br J Haematol 114:761769.
  • 7
    Goransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, Soderhall C, Samuelsson A, Janka G, Schneider M, Gurgey A, Yalman N, Revesz T, Egeler R, Jahnukainen K, Storm-Mathiesen I, Haraldsson A, Poole J, de Saint Basile G, Nordenskjold M, Henter J (2001) Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet 68:590597.
  • 8
    Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN (2009) The Human Gene Mutation Database: 2008 update. Genome Med 1:13.
  • 9
    Horne A, Ramme KG, Rudd E, Zheng C, Wali Y, al- Lamki Z, Gurgey A, Yalman N, Nordenskjold M, Henter JI (2008) Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol 143:7583.
  • 10
    Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Arico M (2008) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet 45:1521.
  • 11
    Voskoboinik I, Smyth MJ, Trapani JA (2006) Perforin-mediated target-cell death and immune homeostasis. Nat Rev Immun 6:940952.
  • 12
    Balta G, Okur H, Unal S, Yarali N, Gunes AM, Turker M, Guler E, Ertem M, Albayrak M, Patiroglu T, Gurgey A (2010) Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation. Leuk Res 34:10121017.
  • 13
    Feldmann J, Le Deist F, Ouachee-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, Fischer A, de Saint Basile G (2002) Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol 117:965972.
  • 14
    Suga N, Takada H, Nomura A, Ohga S, Ishii E, Ihara K, Ohshima K, Hara T (2002) Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan. Br J Haematol 116:346349.
  • 15
    Ueda I, Morimoto A, Inaba T, Yagi T, Hibi S, Sugimoto T, Sako M, Yanai F, Fukushima T, Nakayama M, Ishii E, Imashuku S (2003) Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan. Br J Haematol 121:503510.
  • 16
    Chia J, Yeo KP, Whisstock JC, Dunstone MA, Trapani JA, Voskoboinik I (2009) Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. Proc Natl Acad Sci USA 106:98099814.
  • 17
    Risma KA, Frayer RW, Filipovich AH, Sumegi J (2006) Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis. J Clin Invest 116:182192.
  • 18
    Rosado CJ, Buckle AM, Law RH, Butcher RE, Kan WT, Bird CH, Ung K, Browne KA, Baran K, Bashtannyk-Puhalovich TA, Faux NG, Wong W, Porter CJ, Pike RN, Ellisdon AM, Pearce MC, Bottomley SP, Emsley J, Smith AI, Rossjohn J, Hartland EL, Voskoboinik I, Trapani JA, Bird PI, Dunstone MA, Whisstock JC (2007) A common fold mediates vertebrate defense and bacterial attack. Science 317:15481551.
  • 19
    Hadders MA, Beringer DX, Gros P (2007) Structure of C8alpha-MACPF reveals mechanism of membrane attack in complement immune defense. Science 317:15521554.
  • 20
    Xu Q, Abdubek P, Astakhova T, Axelrod HL, Bakolitsa C, Cai X, Carlton D, Chen C, Chiu HJ, Clayton T, Das D, Deller MC, Duan L, Ellrott K, Farr CL, Feuerhelm J, Grant JC, Grzechnik A, Han GW, Jaroszewski L, Jin KK, Klock HE, Knuth MW, Kozbial P, Krishna SS, Kumar A, Lam WW, Marciano D, Miller MD, Morse AT, Nigoghossian E, Nopakun A, Okach L, Puckett C, Reyes R, Tien HJ, Trame CB, van den Bedem H, Weekes D, Wooten T, Yeh A, Zhou J, Hodgson KO, Wooley J, Elsliger MA, Deacon AM, Godzik A, Lesley SA, Wilson IA (2010) Structure of a membrane-attack complex/perforin (MACPF) family protein from the human gut symbiont Bacteroides thetaiotaomicron. Acta Cryst F66:12971305.
  • 21
    Slade DJ, Lovelace LL, Chruszcz M, Minor W, Lebioda L, Sodetz JM (2008) Crystal structure of the MACPF domain of human complement protein C8 alpha in complex with the C8 gamma subunit. J Mol Biol 379:331342.
  • 22
    Law RH, Lukoyanova N, Voskoboinik I, Caradoc-Davies TT, Baran K, Dunstone MA, D'Angelo ME, Orlova EV, Coulibaly F, Verschoor S, Browne KA, Ciccone A, Kuiper MJ, Bird PI, Trapani JA, Saibil HR, Whisstock JC (2010) The structural basis for membrane binding and pore formation by lymphocyte perforin. Nature 468:447451.
  • 23
    Baran K, Dunstone M, Chia J, Ciccone A, Browne KA, Clarke CJ, Lukoyanova N, Saibil H, Whisstock JC, Voskoboinik I, Trapani JA (2009) The molecular basis for perforin oligomerization and transmembrane pore assembly. Immunity 30:684695.
  • 24
    Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248249.
  • 25
    Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:10731081.
  • 26
    Dehouck Y, Kwasigroch JM, Gilis D, Rooman M (2011) PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality. BMC Bioinform 12:151.
  • 27
    Tuncbag N, Keskin O, Gursoy A (2010) HotPoint: hot spot prediction server for protein interfaces. Nucleic Acids Res 38:W402W406.
  • 28
    Tuncbag N, Gursoy A, Keskin O (2009) Identification of computational hot spots in protein interfaces: combining solvent accessibility and inter-residue potentials improves the accuracy. Bioinformatics 25:15131520.
  • 29
    Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH (2004) Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet 41:137144.
  • 30
    Masson D, Tschopp J (1985) Isolation of a lytic, pore-forming protein (perforin) from cytolytic T-lymphocytes. J Biol Chem 260:90699072.
  • 31
    Podack ER, Young JD, Cohn ZA (1985) Isolation and biochemical and functional characterization of perforin 1 from cytolytic T-cell granules. Proc Natl Acad Sci USA 82:86298633.
  • 32
    Rosado CJ, Kondos S, Bull TE, Kuiper MJ, Law RH, Buckle AM, Voskoboinik I, Bird PI, Trapani JA, Whisstock JC, Dunstone MA (2008) The MACPF/CDC family of pore-forming toxins. Cell Microbiol 10:17651774.
  • 33
    Voskoboinik I, Thia MC, Fletcher J, Ciccone A, Browne K, Smyth MJ, Trapani JA (2005) Calcium-dependent plasma membrane binding and cell lysis by perforin are mediated through its C2 domain: a critical role for aspartate residues 429, 435, 483, and 485 but not 491. J Biol Chem 280:84268434.
  • 34
    McCormick J, Flower DR, Strobel S, Wallace DL, Beverley PC, Tchilian EZ (2003) Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing. Am J Med Genet A 117A:255260.
  • 35
    Okur H, Balta G, Akarsu N, Oner A, Patiroglu T, Bay A, Sayli T, Unal S, Gurgey A (2008) Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. Leuk Res 32:972975.
  • 36
    Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH (2002) Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood 99:6166.
  • 37
    Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat 27:6268.
  • 38
    Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjold M, Henter JI, Long EO, Ljunggren HG (2007) Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood 110:19061915.
  • 39
    Chia J, Thia K, Brennan AJ, Little M, Williams B, Lopez JA, Trapani JA, Voskoboinik I (2012) Fatal immune dysregulation due to a gain of glycosylation mutation in lymphocyte perforin. Blood 119:17131716.
  • 40
    Zur Stadt U, Beutel K, Weber B, Kabisch H, Schneppenheim R, Janka G (2004) A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype. Blood 104:19091910.
  • 41
    Voskoboinik I, Sutton VR, Ciccone A, House CM, Chia J, Darcy PK, Yagita H, Trapani JA (2007) Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function. Blood 110:11841190.
  • 42
    Busiello R, Adriani M, Locatelli F, Galgani M, Fimiani G, Clementi R, Ursini MV, Racioppi L, Pignata C (2004) Atypical features of familial hemophagocytic lymphohistiocytosis. Blood 103:46104612.
  • 43
    Mancebo E, Allende LM, Guzman M, Paz-Artal E, Gil J, Urrea-Moreno R, Fernandez-Cruz E, Gaya A, Calvo J, Arbos A, Duran MA, Canet R, Balanzat J, Udina MA, Vercher FJ (2006) Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection. Haematologica 91:12571260.
  • 44
    Lu Q, Wu A, Ray D, Deng C, Attwood J, Hanash S, Pipkin M, Lichtenheld M, Richardson B (2003) DNA methylation and chromatin structure regulate T cell perforin gene expression. J Immunol 170:51245132.
  • 45
    Brennan AJ, Chia J, Trapani JA, Voskoboinik I (2010) Perforin deficiency and susceptibility to cancer. Cell Death Differ 17:607615.
  • 46
    Bordoli L, Kiefer F, Arnold K, Benkert P, Battey J, Schwede T (2009) Protein structure homology modeling using SWISS-MODEL workspace. Nat Protoc 4:113.
  • 47
    Magrane M, Consortium U (2011) UniProt Knowledgebase: a hub of integrated protein data. Database bar009.
  • 48
    Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT (2011) LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 32:557563.
  • 49
    Schymkowitz J, Borg J, Stricher F, Nys R, Rousseau F, Serrano L (2005) The FoldX web server: an online force field. Nucleic Acids Res 33:W382W388.
  • 50
    Guerois R, Nielsen JE, Serrano L (2002) Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. J Mol Biol 320:369387.
  • 51
    Humphrey W, Dalke A, Schulten K (1996) VMD: visual molecular dynamics. J Mol Graph 14:3338.
  • 52
    Mihel J, Sikic M, Tomic S, Jeren B, Vlahovicek K (2008) PSAIA—protein structure and interaction analyzer. BMC Struct Biol 8:21.